Canonical Allele Identifier: CA1628502985
Gene: PKHD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.51748287T= , CM000668.2:g.51748287T= GRCh38
NC_000006.11:g.51613085T= , CM000668.1:g.51613085T= GRCh37
NC_000006.10:g.51721044T= NCBI36
NG_008753.1:g.344339A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000371117.8:c.9329A= MANE Select ENSP00000360158.3:p.Lys3110=
ENST00000340994.4:c.9329A= ENSP00000341097.4:p.Lys3110=
ENST00000371117.7:c.9329A= ENSP00000360158.3:p.Lys3110=
NM_138694.3:c.9329A= NP_619639.3:p.Lys3110=
NM_170724.2:c.9329A= NP_733842.2:p.Lys3110=
XM_011514679.1:c.9329A= XP_011512981.1:p.Lys3110=
XM_011514680.1:c.9329A= XP_011512982.1:p.Lys3110=
XM_011514681.1:c.9200A= XP_011512983.1:p.Lys3067=
XM_011514682.1:c.9191A= XP_011512984.1:p.Lys3064=
XM_011514683.1:c.8687A= XP_011512985.1:p.Lys2896=
XM_011514684.1:c.8618A= XP_011512986.1:p.Lys2873=
XM_011514685.1:c.9329A= XP_011512987.1:p.Lys3110=
XM_011514686.1:c.9329A= XP_011512988.1:p.Lys3110=
XM_011514687.1:c.9329A= XP_011512989.1:p.Lys3110=
XM_011514688.1:c.9329A= XP_011512990.1:p.Lys3110=
XM_011514690.1:c.3404A= XP_011512992.1:p.Lys1135=
XM_011514691.1:c.3404A= XP_011512993.1:p.Lys1135=
XM_011514680.3:c.9329A= XP_011512982.1:p.Lys3110=
XM_011514682.3:c.9191A= XP_011512984.1:p.Lys3064=
XM_011514683.3:c.8687A= XP_011512985.1:p.Lys2896=
XM_011514684.3:c.8618A= XP_011512986.1:p.Lys2873=
XM_011514686.2:c.9329A= XP_011512988.1:p.Lys3110=
XM_011514688.2:c.9329A= XP_011512990.1:p.Lys3110=
XM_011514690.3:c.3404A= XP_011512992.1:p.Lys1135=
XM_011514691.3:c.3404A= XP_011512993.1:p.Lys1135=
XM_017010944.2:c.9329A= XP_016866433.1:p.Lys3110=
XM_017010945.2:c.9254A= XP_016866434.1:p.Lys3085=
XM_017010946.2:c.9134A= XP_016866435.1:p.Lys3045=
XM_017010947.2:c.9065A= XP_016866436.1:p.Lys3022=
XM_017010948.2:c.8618A= XP_016866437.1:p.Lys2873=
XM_017010949.2:c.7469A= XP_016866438.1:p.Lys2490=
XM_017010950.1:c.9329A= XP_016866439.1:p.Lys3110=
XR_001743469.1:n.9605A=
NM_138694.4:c.9329A= MANE Select NP_619639.3:p.Lys3110=
NM_170724.3:c.9329A= NP_733842.2:p.Lys3110=